Incidental Mutation 'R0467:Pgr'
| ID |
41697 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Pgr
|
| Ensembl Gene |
ENSMUSG00000031870 |
| Gene Name |
progesterone receptor |
| Synonyms |
NR3C3, 9930019P03Rik, PR-A, PR, ENSMUSG00000074510, PR-B |
| MMRRC Submission |
038667-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.460)
|
| Stock # |
R0467 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
8899834-8968612 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 8900779 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 104
(A104V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140124
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000070463]
[ENSMUST00000098986]
[ENSMUST00000189181]
|
| AlphaFold |
Q00175 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000070463
AA Change: A104V
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000063562
Gene: ENSMUSG00000031870
AA Change: A104V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
120 |
N/A |
INTRINSIC |
|
low complexity region
|
244 |
265 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
354 |
N/A |
INTRINSIC |
|
low complexity region
|
418 |
431 |
N/A |
INTRINSIC |
|
low complexity region
|
434 |
454 |
N/A |
INTRINSIC |
|
low complexity region
|
493 |
503 |
N/A |
INTRINSIC |
|
low complexity region
|
505 |
519 |
N/A |
INTRINSIC |
|
ZnF_C4
|
557 |
628 |
1.29e-29 |
SMART |
|
low complexity region
|
703 |
711 |
N/A |
INTRINSIC |
|
HOLI
|
713 |
877 |
3.21e-34 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098986
|
| SMART Domains |
Protein: ENSMUSP00000096584
Gene: ENSMUSG00000031870
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
79 |
100 |
N/A |
INTRINSIC |
|
low complexity region
|
172 |
189 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
289 |
N/A |
INTRINSIC |
|
low complexity region
|
328 |
338 |
N/A |
INTRINSIC |
|
low complexity region
|
340 |
354 |
N/A |
INTRINSIC |
|
ZnF_C4
|
392 |
463 |
1.29e-29 |
SMART |
|
low complexity region
|
538 |
546 |
N/A |
INTRINSIC |
|
HOLI
|
548 |
712 |
3.21e-34 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151080
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000189181
AA Change: A104V
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000140124
Gene: ENSMUSG00000031870
AA Change: A104V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
45 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
120 |
N/A |
INTRINSIC |
|
low complexity region
|
244 |
265 |
N/A |
INTRINSIC |
|
low complexity region
|
337 |
354 |
N/A |
INTRINSIC |
|
low complexity region
|
418 |
431 |
N/A |
INTRINSIC |
|
low complexity region
|
434 |
454 |
N/A |
INTRINSIC |
|
low complexity region
|
493 |
503 |
N/A |
INTRINSIC |
|
low complexity region
|
505 |
519 |
N/A |
INTRINSIC |
|
ZnF_C4
|
557 |
628 |
1.29e-29 |
SMART |
|
low complexity region
|
703 |
711 |
N/A |
INTRINSIC |
|
HOLI
|
713 |
877 |
3.21e-34 |
SMART |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 96.7%
- 20x: 93.3%
|
| Validation Efficiency |
98% (52/53) |
| MGI Phenotype |
FUNCTION: This gene encodes a member of the steroid receptor superfamily. The encoded protein mediates the physiological effects of progesterone, which plays a central role in reproductive events associated with the establishment and maintenance of pregnancy. [provided by RefSeq, Sep 2015]
PHENOTYPE: Null female mice are sterile and exhibit ovulatory defects, uterine hyperplasia, and impaired mammary development. Females lacking only isoform A are infertile but show normal mammary development, while females lacking only isoform B are fertile but present with mammary developmental defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
G |
17: 24,532,151 (GRCm39) |
|
probably benign |
Het |
| Anapc1 |
A |
G |
2: 128,510,963 (GRCm39) |
I511T |
probably damaging |
Het |
| Atf6 |
A |
T |
1: 170,621,589 (GRCm39) |
H477Q |
probably damaging |
Het |
| C4b |
A |
G |
17: 34,955,101 (GRCm39) |
V795A |
probably benign |
Het |
| Cdh26 |
C |
T |
2: 178,123,425 (GRCm39) |
R675C |
possibly damaging |
Het |
| Cdk12 |
T |
C |
11: 98,094,405 (GRCm39) |
V71A |
probably damaging |
Het |
| Cul3 |
A |
T |
1: 80,258,580 (GRCm39) |
D419E |
probably benign |
Het |
| Ddi2 |
A |
G |
4: 141,412,495 (GRCm39) |
I139T |
probably benign |
Het |
| Dnaaf1 |
T |
A |
8: 120,317,471 (GRCm39) |
D333E |
probably benign |
Het |
| Dnase1 |
A |
G |
16: 3,857,013 (GRCm39) |
D7G |
probably damaging |
Het |
| G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
| Galc |
A |
C |
12: 98,208,904 (GRCm39) |
I250R |
probably damaging |
Het |
| Garin1b |
G |
A |
6: 29,326,606 (GRCm39) |
S241N |
probably damaging |
Het |
| Gcfc2 |
T |
C |
6: 81,900,863 (GRCm39) |
V59A |
possibly damaging |
Het |
| Gm6133 |
A |
C |
18: 78,393,305 (GRCm39) |
S100R |
probably benign |
Het |
| Iba57 |
T |
C |
11: 59,054,265 (GRCm39) |
T85A |
probably benign |
Het |
| Ipo4 |
A |
T |
14: 55,872,983 (GRCm39) |
M1K |
probably null |
Het |
| Ippk |
A |
G |
13: 49,584,341 (GRCm39) |
|
probably null |
Het |
| Kcnk10 |
A |
T |
12: 98,456,204 (GRCm39) |
I209N |
probably benign |
Het |
| Klk14 |
T |
C |
7: 43,343,534 (GRCm39) |
L122P |
probably benign |
Het |
| Ltbp1 |
T |
A |
17: 75,589,424 (GRCm39) |
|
probably null |
Het |
| Mab21l4 |
A |
T |
1: 93,080,766 (GRCm39) |
I380N |
probably damaging |
Het |
| Mcm3 |
T |
C |
1: 20,875,071 (GRCm39) |
D737G |
probably benign |
Het |
| Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
| Nalcn |
T |
A |
14: 123,528,459 (GRCm39) |
T1456S |
probably benign |
Het |
| Nckap1l |
C |
T |
15: 103,405,854 (GRCm39) |
P1097S |
probably benign |
Het |
| Ncoa1 |
A |
G |
12: 4,317,687 (GRCm39) |
M1215T |
possibly damaging |
Het |
| Nomo1 |
T |
A |
7: 45,721,911 (GRCm39) |
|
probably null |
Het |
| Obox5 |
T |
A |
7: 15,491,932 (GRCm39) |
C116S |
possibly damaging |
Het |
| Or2ag2b |
T |
A |
7: 106,417,568 (GRCm39) |
S93T |
possibly damaging |
Het |
| Or51a43 |
C |
T |
7: 103,717,332 (GRCm39) |
R302H |
probably benign |
Het |
| Or5a1 |
C |
A |
19: 12,097,900 (GRCm39) |
A59S |
probably benign |
Het |
| Pcdhb14 |
G |
T |
18: 37,582,277 (GRCm39) |
R461L |
probably damaging |
Het |
| Pdgfra |
A |
G |
5: 75,355,697 (GRCm39) |
D1069G |
probably damaging |
Het |
| Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
| Potegl |
A |
G |
2: 23,102,832 (GRCm39) |
E190G |
possibly damaging |
Het |
| Rassf3 |
A |
G |
10: 121,253,109 (GRCm39) |
|
probably benign |
Het |
| Rgs22 |
G |
T |
15: 36,099,941 (GRCm39) |
S258* |
probably null |
Het |
| Rsph6a |
C |
A |
7: 18,791,594 (GRCm39) |
D254E |
possibly damaging |
Het |
| Sgk1 |
A |
G |
10: 21,872,257 (GRCm39) |
|
probably benign |
Het |
| Shcbp1l |
G |
A |
1: 153,308,928 (GRCm39) |
C174Y |
probably damaging |
Het |
| Spata31g1 |
T |
C |
4: 42,972,715 (GRCm39) |
S683P |
probably benign |
Het |
| Sulf1 |
T |
A |
1: 12,867,144 (GRCm39) |
N109K |
probably damaging |
Het |
| Taf7l2 |
G |
A |
10: 115,949,058 (GRCm39) |
A156V |
probably benign |
Het |
| Tas2r115 |
T |
A |
6: 132,714,682 (GRCm39) |
I90L |
probably benign |
Het |
| Tmem200a |
T |
C |
10: 25,870,002 (GRCm39) |
H89R |
probably benign |
Het |
| Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
| Xrn1 |
T |
C |
9: 95,906,244 (GRCm39) |
S1212P |
probably damaging |
Het |
| Zfp408 |
T |
C |
2: 91,475,882 (GRCm39) |
Y424C |
possibly damaging |
Het |
|
| Other mutations in Pgr |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01610:Pgr
|
APN |
9 |
8,903,692 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01772:Pgr
|
APN |
9 |
8,946,637 (GRCm39) |
splice site |
probably benign |
|
|
IGL01963:Pgr
|
APN |
9 |
8,922,669 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02033:Pgr
|
APN |
9 |
8,965,111 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02837:Pgr
|
APN |
9 |
8,946,639 (GRCm39) |
splice site |
probably benign |
|
|
IGL03070:Pgr
|
APN |
9 |
8,903,665 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL03300:Pgr
|
APN |
9 |
8,961,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0152:Pgr
|
UTSW |
9 |
8,965,023 (GRCm39) |
missense |
probably benign |
0.45 |
|
R0305:Pgr
|
UTSW |
9 |
8,902,088 (GRCm39) |
splice site |
probably benign |
|
|
R0317:Pgr
|
UTSW |
9 |
8,965,023 (GRCm39) |
missense |
probably benign |
0.45 |
|
R1673:Pgr
|
UTSW |
9 |
8,902,069 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1711:Pgr
|
UTSW |
9 |
8,922,715 (GRCm39) |
splice site |
probably null |
|
|
R1928:Pgr
|
UTSW |
9 |
8,903,630 (GRCm39) |
nonsense |
probably null |
|
|
R1951:Pgr
|
UTSW |
9 |
8,946,954 (GRCm39) |
splice site |
probably benign |
|
|
R2023:Pgr
|
UTSW |
9 |
8,958,399 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2426:Pgr
|
UTSW |
9 |
8,900,718 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2967:Pgr
|
UTSW |
9 |
8,901,819 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R3105:Pgr
|
UTSW |
9 |
8,958,397 (GRCm39) |
missense |
probably benign |
0.02 |
|
R3440:Pgr
|
UTSW |
9 |
8,922,630 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3735:Pgr
|
UTSW |
9 |
8,901,534 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3947:Pgr
|
UTSW |
9 |
8,961,453 (GRCm39) |
missense |
probably benign |
0.25 |
|
R4398:Pgr
|
UTSW |
9 |
8,903,750 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4497:Pgr
|
UTSW |
9 |
8,958,420 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4811:Pgr
|
UTSW |
9 |
8,900,844 (GRCm39) |
nonsense |
probably null |
|
|
R4907:Pgr
|
UTSW |
9 |
8,947,044 (GRCm39) |
intron |
probably benign |
|
|
R4996:Pgr
|
UTSW |
9 |
8,900,914 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5448:Pgr
|
UTSW |
9 |
8,922,638 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5449:Pgr
|
UTSW |
9 |
8,956,344 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5699:Pgr
|
UTSW |
9 |
8,900,600 (GRCm39) |
start gained |
probably benign |
|
|
R5764:Pgr
|
UTSW |
9 |
8,900,538 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6057:Pgr
|
UTSW |
9 |
8,902,006 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6134:Pgr
|
UTSW |
9 |
8,900,740 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
R6242:Pgr
|
UTSW |
9 |
8,900,980 (GRCm39) |
missense |
probably benign |
|
|
R6476:Pgr
|
UTSW |
9 |
8,964,839 (GRCm39) |
splice site |
probably null |
|
|
R6508:Pgr
|
UTSW |
9 |
8,956,290 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6604:Pgr
|
UTSW |
9 |
8,946,867 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R6715:Pgr
|
UTSW |
9 |
8,965,000 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7444:Pgr
|
UTSW |
9 |
8,946,883 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7769:Pgr
|
UTSW |
9 |
8,946,856 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7899:Pgr
|
UTSW |
9 |
8,903,743 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8139:Pgr
|
UTSW |
9 |
8,956,341 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R8198:Pgr
|
UTSW |
9 |
8,958,411 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R8348:Pgr
|
UTSW |
9 |
8,922,602 (GRCm39) |
missense |
probably benign |
0.32 |
|
R8713:Pgr
|
UTSW |
9 |
8,900,818 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8725:Pgr
|
UTSW |
9 |
8,901,544 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8727:Pgr
|
UTSW |
9 |
8,901,544 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8748:Pgr
|
UTSW |
9 |
8,958,449 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9518:Pgr
|
UTSW |
9 |
8,922,645 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9542:Pgr
|
UTSW |
9 |
8,901,532 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R9631:Pgr
|
UTSW |
9 |
8,900,847 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9639:Pgr
|
UTSW |
9 |
8,900,994 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R9750:Pgr
|
UTSW |
9 |
8,901,918 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
X0066:Pgr
|
UTSW |
9 |
8,900,835 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACCAGCTTGCTCCAGCTACTTC -3'
(R):5'- CAACAACCCTTTGGTAGCAGGGAC -3'
Sequencing Primer
(F):5'- cccctcctccttcccttttc -3'
(R):5'- GTAGCAGGGACACTGCG -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation